Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 54844115 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||||
|
0.882 | 14 | 102010824 | missense variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.040 | 2 | 165373339 | stop gained | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | X | 136016706 | frameshift variant | GT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 4 | 139336933 | frameshift variant | CTTGA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 10 | 28614666 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 3 | 47846757 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.827 | 0.160 | 20 | 63490712 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.160 | 7 | 50463317 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.790 | 0.160 | 6 | 78946061 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 6 | 79003821 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.200 | 11 | 686962 | missense variant | A/C;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2017 | |||||||||
|
0.851 | 0.200 | X | 123428020 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.200 | X | 20187956 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 17 | 61966645 | stop gained | G/A;C;T | snv | 4.3E-06; 4.3E-05 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 11 | 686925 | missense variant | C/G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.240 | 14 | 77027279 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.240 | 4 | 25145092 | synonymous variant | C/T | snv | 2.8E-05 | 4.2E-05 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.240 | 12 | 101757311 | splice acceptor variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.240 | 4 | 25145129 | splice acceptor variant | -/C | delins | 4.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.240 | 15 | 42399616 | missense variant | C/T | snv | 4.0E-06; 2.4E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.280 | 12 | 51765746 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.280 | 5 | 157294834 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 12 | 101764363 | frameshift variant | CTTTT/-;CTTTTCTTTT | delins | 2.8E-05 | 7.0E-06 |
|
0.700 | 0 |